| H00581 | |
| H number | H00581 |
| Name | Alport syndrome |
| Description | Alport syndrome (ATS) is a hereditary hematuric nephropathy with frequent hearing loss and ocular anomalies. Defects of basement membranes arise from mutations in alpha 3, alpha 4, and alpha 5 type IV collagen chains. The mode of inheritance is either X-linked or autosomal recessive, although autosomal dominant form has been observed in a few families. Male patients with X-linked Alport syndrome suffer from severe renal symptoms that progress to end-stage renal disease associated with deafness which starts during the first decade of life, and ocular lesions including anterior lenticonus. Autosomal recessive Alport syndrome is usually severe, showing progressive nephritis and hearing impairment. |
| Category | Congenital malformation |
| Network | - |
| Gene | (ATS1) COL4A5 [HSA:1287] [KO:K06237] (ATS2) COL4A4 [HSA:1286] [KO:K06237] (ATS2_3) COL4A3 [HSA:1285] [KO:K06237] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2H.Y ICD-10: Q87.8 MeSH: D009394 OMIM: 301050 203780 104200 |
| Reference | PMID:21071975 AUTHORS Kashtan CE, Segal Y TITLE Genetic disorders of glomerular basement membranes. JOURNAL Nephron Clin Pract 118:c9-c18 (2011) DOI:10.1159/000320876 PMID:19470679 AUTHORS Heidet L, Gubler MC TITLE The renal lesions of Alport syndrome. JOURNAL J Am Soc Nephrol 20:1210-5 (2009) DOI:10.1681/ASN.2008090984 PMID:20378821 (ATS1) AUTHORS Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW TITLE Genotype-phenotype correlation in X-linked Alport syndrome. JOURNAL J Am Soc Nephrol 21:876-83 (2010) DOI:10.1681/ASN.2009070784 PMID:24052634 (ATS2) AUTHORS Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA TITLE COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. JOURNAL J Am Soc Nephrol 24:1945-54 (2013) DOI:10.1681/ASN.2012100985 PMID:11044206 (ATS3) AUTHORS van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schroder CH, Smeets HJ TITLE Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. JOURNAL Kidney Int 58:1870-5 (2000) DOI:10.1111/j.1523-1755.2000.00358.x |